doi: 10.1007/BF00210673.
Isochromosome not translocation in trisomy 21q21q
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- PMID: 2532615
- DOI: 10.1007/BF00210673
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Isochromosome not translocation in trisomy 21q21q
Hum Genet.
1989 Dec.
Abstract
After primary trisomy, "de novo" 21q21q trisomy is the most frequent chromosomal aberration responsible for Down syndrome. This rearrangement is more commonly referred to as a Robertsonian translocation or centric fusion product than as an isochromosome, e.g., t(21q;21q) instead of i(21q); however, in practice, it has not so far proved possible to distinguish between these alternatives. The aim of this work was to establish which of the two alternatives is acceptable.
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